Article
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
Molecular vision - 1 Jan 2015
Dubey Sushil Kumar, Mahalaxmi Nagasubramanian, Vijayalakshmi Perumalsamy, Sundaresan Periasamy
Abstract excerpt
PURPOSE: Aniridia is a rare panocular disorder characterized by iris hypoplasia and other associated eye anomalies. Heterozygous null mutations in paired box gene 6 (PAX6) are the major cause of the classic aniridia phenotype. This study aims to detect the mutational spectrum of PAX6 and associated phenotypes in southern Indian patients with sporadic and familial aniridia. METHODS: Genomic DNA was isolated from...
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